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The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes
Author(s): Skaletsky H, Kuroda-Kawaguchi T, Minx PJ, Cordum HS, Hillier L, Brown LG, Repping S, Pyntikova T, Ali J, Bieri T, Chinwalla A, Delehaunty A, Delehaunty K, Du H, Fewell G, Fulton L, Fulton R, Graves T, Hou SF, Latrielle P, Leonard S, Mardis E, Maupin R, McPherson J, Miner T, Nash W, Nguyen C, Ozersky P, Pepin K, Rock S, Rohlfing T, Scott K, Schultz B, Strong C, Tin-Wollam A, Yang SP, Waterston RH, Wilson RK, Rozen S, Page DC
Source: NATURE    Volume: 423    Issue: 6942    Pages: 825-U2    Published: JUN 19 2003  
Times Cited: 506     References: 50     
Abstract: The male-specific region of the Y chromosome, the MSY, differentiates the sexes and comprises 95% of the chromosome's length. Here, we report that the MSY is a mosaic of heterochromatic sequences and three classes of euchromatic sequences: X-transposed, X-degenerate and ampliconic. These classes contain all 156 known transcription units, which include 78 protein-coding genes that collectively encode 27 distinct proteins. The X-transposed sequences exhibit 99% identity to the X chromosome. The X-degenerate sequences are remnants of ancient autosomes from which the modern X and Y chromosomes evolved. The ampliconic class includes large regions (about 30% of the MSY euchromatin) where sequence pairs show greater than 99.9% identity, which is maintained by frequent gene conversion (non-reciprocal transfer). The most prominent features here are eight massive palindromes, at least six of which contain testis genes.
Document Type: Article
Language: English
Reprint Address: Page, DC (reprint author), MIT, Howard Hughes Med Inst, Whitehead Inst, 9 Cambridge Ctr, Cambridge, MA 02142 USA
Addresses:
1. MIT, Howard Hughes Med Inst, Whitehead Inst, Cambridge, MA 02142 USA
2. MIT, Dept Biol, Cambridge, MA 02142 USA
3. Washington Univ, Sch Med, Genome Sequencing Ctr, St Louis, MO 63108 USA
4. Univ Amsterdam, Acad Med Ctr, Dept Obstet & Gynaecol, Ctr Reprod Med, NL-1105 AZ Amsterdam, Netherlands
Publisher: NATURE PUBLISHING GROUP, MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND
Subject Category: Multidisciplinary Sciences
IDS Number: 691BQ
ISSN: 0028-0836
DOI: 10.1038/nature01722
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